Canonical Allele Identifier: CA2678952281
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44300538-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44300538G>C , CM000668.2:g.44300538G>C GRCh38
NC_000006.11:g.44268275G>C , CM000668.1:g.44268275G>C GRCh37
NC_000006.10:g.44376253G>C NCBI36
NG_031952.1:g.17789C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.*9C>G (AARS2) MANE Select ENSP00000244571.4:n.*9C>G
ENST00000244571.4:c.*9C>G (AARS2) ENSP00000244571.4:n.*9C>G
ENST00000438774.2:c.577-6405G>C (TMEM151B) ENSP00000409337.2:n.577-6405G>C
ENST00000505802.1:c.314-6405G>C
NM_020745.3:c.*9C>G (AARS2) NP_065796.1:n.*9C>G
XM_005249245.2:c.*9C>G (AARS2) XP_005249302.1:n.*9C>G
XM_011514764.1:c.2793+618C>G (AARS2) XP_011513066.1:n.2793+618C>G
XR_241907.2:n.2892C>G (AARS2)
XM_005249245.3:c.*9C>G (AARS2) XP_005249302.1:n.*9C>G
XM_011514764.2:c.2793+618C>G (AARS2) XP_011513066.1:n.2793+618C>G
XM_017011112.1:c.*9C>G (AARS2) XP_016866601.1:n.*9C>G
NM_020745.4:c.*9C>G (AARS2) MANE Select NP_065796.2:n.*9C>G
NM_001318876.2:c.946-141352G>C (POLR1C) NP_001305805.1:n.946-141352G>C
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